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International Birth Defects Information Systems
Rett Syndrome

International Birth Defects Information Systems

Rett Syndrome

Topics: | Rett Syndrome | Autism | Dementia | Ataxia | Deurencia - Apraxia manual | "Hand Wringing" Syndrome | Rett Syndrome (RS) | Sindrome de Rett |

Related Topics: | Bibliography | Disabilities | Birth Defects | Fetal Alcohol Syndrome |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | French | German | Italian | Portuguese | Spanish | Ukrainian |

Notes per Visitors  

Rett Syndrome is a neurological disorder affecting mostly females. Development is nearly normal until sometime during the first year, when regression and loss of skills is noted. A particular posture of "hand wringing" is a distinctive feature.

Some key features ...

  • Apparent normal early development
  • Severely impaired language development
  • Hand wringing Slowed rate of head growth
Our team recommends ...
  • Systematic measurement of head circumference in all children, particulary those whose development causes concerns for the first year of life
  • Early consultation with specialist in child development - do not wait!

Rett Syndrome
National Institute of Neurological Disorders and Stroke, April 17, 2007
Visitor Comments [for Professionals mainly]
Exclusive involvement of females. Hypotonia (diminished muscle tone) is often the first symptom. "... a progressive neurological disorder in which individuals exhibit reduced muscle tone, autistic-like behavior, hand movements ... mainly wringing - waving ... lag in (postnatal) brain and head growth ... seizures... the cause is unknown ..." (1996).

Rett Syndrome
Victor A. McKusick, OMIM, Johns Hopkins University, September 5, 2007
Visitor Comments [for Professionals mainly]
OMIM authoritative 14 page review - mainly for Medical Geneticists (1999).

Our Rett Syndrome Web Site- A resource for Families
Deborah Schilling, 2007
" ... occurring only in girls ... autistic-like behavior, stereotyped hand movements ..." Provides a listing of Videos ... other ideas ... (1999).

International Rett Syndrome Association (California)
IRSA, November 8, 2007
Visitor Comments [French] [German] [Italian] [Portuguese] [Spanish]
Gate page with access to multi-lingual versions and

Rett Syndrome Research Foundation
RSRF, 2007
... encourages research which answers fundamental questions with regard to how changes in the MECP2 gene causes disease.

Rett Syndrome
Stephen M. Edelson, Ph.D. Center for the Study of Autism, Salem, Oregon, 1999
Rett Syndrome was first recognized by Andreas Rett in 1966 and is a neurological disorder affecting primarily females. The prevalence of Rett Syndrome is similar to the prevalence of autism; that is, estimates are between 1 in 10,000 births and 1 in 15,000 births. Typical characteristics: Normal development, Shakiness of the torso, Unsteady, Breathing difficulties, Seizures, Teeth grinding, Retarded growth, Hypoactivity.

Rett Syndrome
I.B.I.S. Birth Defects, August 9, 2002
Visitor Comments [Ukrainian]
A fact sheet in Ukrainian.
Definition ... Main diagnostic criteria ... Clinical features ... Differential diagnosis ... Etiology ... Treatment ... Prognosis ... OMIM number


Last Updated: 2007/11/08


American Medical Association